Caused by changes in SLC6A5, which encodes a glycine transporter. Reported cohorts show mostly recessive inheritance, although some dominant cases occur.
Příznaky a projevy
Marked stiffness in newborns and an exaggerated startle reaction to unexpected noise or touch are typical, and can cause falls. Apnoea (pauses in breathing) and cyanosis can also occur in newborns.
Co se diagnózou změní
Genetic counselling, with carrier or parental testing depending on the inheritance, is available. Patients should be assessed for developmental and neuropsychiatric problems, and genetic testing is advised.
Analyzované geny
Známé také jako
hereditary hyperekplexia caused by mutation in SLC6A5; HKPX3; hyperekplexia type 3; SLC6A5 hereditary hyperekplexia
